A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630300



Internal ID7017119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88375196..88421859hg38UCSC Ensembl
chr12:88768973..88815636hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3846664
hg1946664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14565339
SamplesHG01168
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630300
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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